Canonical Allele Identifier: CA401424672

Gene: BAIAP2

Linked Data

• dbSNP Id: rs1243301746
• gnomAD v2: 17-79060269-G-C
• gnomAD v4: 17-81086469-G-C
• MyVariant Identifiers: chr17:g.79060269G>C (hg19) ; chr17:g.81086469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81086469G>C , CM000679.2:g.81086469G>C	GRCh38
NC_000017.10:g.79060269G>C , CM000679.1:g.79060269G>C	GRCh37
NC_000017.9:g.76674864G>C	NCBI36
NG_029486.1:g.56323G>C
NG_029486.2:g.56323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428708.7:c.378G>C MANE Select	ENSP00000401022.2:p.Glu126Asp
ENST00000321280.11:c.378G>C	ENSP00000315685.7:p.Glu126Asp
ENST00000321300.10:c.378G>C	ENSP00000316338.6:p.Glu126Asp
ENST00000428708.6:c.378G>C	ENSP00000401022.2:p.Glu126Asp
ENST00000435091.7:c.378G>C	ENSP00000413069.3:p.Glu126Asp
ENST00000571530.5:c.318G>C	ENSP00000458202.1:p.Glu106Asp
ENST00000572073.5:c.204G>C	ENSP00000459787.1:p.Glu68Asp
ENST00000572329.5:c.*17G>C	ENSP00000460492.1:n.*17G>C
ENST00000572918.5:c.318G>C	ENSP00000460131.1:p.Glu106Asp
ENST00000573017.5:n.413G>C
ENST00000573659.5:c.204G>C	ENSP00000461736.1:p.Glu68Asp
ENST00000573677.5:c.204G>C	ENSP00000458735.1:p.Glu68Asp
ENST00000573894.5:n.457G>C
ENST00000574804.5:c.*17G>C	ENSP00000459730.1:n.*17G>C
ENST00000575245.5:c.477G>C	ENSP00000461144.1:p.Glu159Asp
ENST00000575712.5:c.378G>C	ENSP00000458964.1:p.Glu126Asp
ENST00000575750.5:c.*128G>C	ENSP00000460344.1:n.*128G>C
ENST00000575841.5:c.9G>C	ENSP00000461101.1:p.Glu3Asp
ENST00000575958.5:c.204G>C	ENSP00000458522.1:p.Glu68Asp
ENST00000575989.5:c.204G>C	ENSP00000458494.1:p.Glu68Asp
ENST00000576225.5:n.658G>C
ENST00000576364.6:n.278G>C
ENST00000577097.5:n.504G>C
NM_001144888.1:c.378G>C	NP_001138360.1:p.Glu126Asp
NM_006340.2:c.378G>C	NP_006331.1:p.Glu126Asp
NM_017450.2:c.378G>C	NP_059344.1:p.Glu126Asp
NM_017451.2:c.378G>C	NP_059345.1:p.Glu126Asp
XM_005256943.1:c.477G>C	XP_005257000.1:p.Glu159Asp
XM_005256944.1:c.477G>C	XP_005257001.1:p.Glu159Asp
XM_005256945.1:c.477G>C	XP_005257002.1:p.Glu159Asp
XM_005256948.2:c.378G>C	XP_005257005.1:p.Glu126Asp
XM_006721635.1:c.477G>C	XP_006721698.1:p.Glu159Asp
XM_006721636.1:c.477G>C	XP_006721699.1:p.Glu159Asp
XM_006721637.1:c.378G>C	XP_006721700.1:p.Glu126Asp
XM_011524193.1:c.477G>C	XP_011522495.1:p.Glu159Asp
XM_011524194.1:c.477G>C	XP_011522496.1:p.Glu159Asp
XM_005256948.3:c.378G>C	XP_005257005.1:p.Glu126Asp
XM_006721637.2:c.378G>C	XP_006721700.1:p.Glu126Asp
XM_017024017.1:c.360G>C	XP_016879506.1:p.Glu120Asp
XM_017024018.1:c.144G>C	XP_016879507.1:p.Glu48Asp
XM_024450534.1:c.381G>C	XP_024306302.1:p.Glu127Asp
XM_024450535.1:c.144G>C	XP_024306303.1:p.Glu48Asp
NM_001144888.2:c.378G>C MANE Select	NP_001138360.1:p.Glu126Asp
NM_006340.3:c.378G>C	NP_006331.1:p.Glu126Asp
NM_017450.3:c.378G>C	NP_059344.1:p.Glu126Asp
NM_017451.3:c.378G>C	NP_059345.1:p.Glu126Asp
NM_001385127.1:c.378G>C	NP_001372056.1:p.Glu126Asp
NM_001385128.1:c.378G>C	NP_001372057.1:p.Glu126Asp
NM_001385129.1:c.477G>C	NP_001372058.1:p.Glu159Asp
NM_001385130.1:c.477G>C	NP_001372059.1:p.Glu159Asp
NM_001385131.1:c.378G>C	NP_001372060.1:p.Glu126Asp
NM_001385132.1:c.477G>C	NP_001372061.1:p.Glu159Asp
NM_001385133.1:c.477G>C	NP_001372062.1:p.Glu159Asp
NM_001385134.1:c.477G>C	NP_001372063.1:p.Glu159Asp
NM_001385135.1:c.477G>C	NP_001372064.1:p.Glu159Asp
NM_001385136.1:c.477G>C	NP_001372065.1:p.Glu159Asp
NM_001385137.1:c.453G>C	NP_001372066.1:p.Glu151Asp
NM_001385138.1:c.378G>C	NP_001372067.1:p.Glu126Asp
NM_001385139.1:c.378G>C	NP_001372068.1:p.Glu126Asp
NM_001385140.1:c.378G>C	NP_001372069.1:p.Glu126Asp
NM_001385141.1:c.378G>C	NP_001372070.1:p.Glu126Asp
NM_001385144.1:c.372G>C	NP_001372073.1:p.Glu124Asp
NM_001385145.1:c.378G>C	NP_001372074.1:p.Glu126Asp
NM_001385146.1:c.378G>C	NP_001372075.1:p.Glu126Asp
NM_001385147.1:c.204G>C	NP_001372076.1:p.Glu68Asp
NM_001385148.1:c.204G>C	NP_001372077.1:p.Glu68Asp
NM_001385149.1:c.204G>C	NP_001372078.1:p.Glu68Asp
NM_001385150.1:c.144G>C	NP_001372079.1:p.Glu48Asp
NM_001385151.1:c.144G>C	NP_001372080.1:p.Glu48Asp
NM_001385152.1:c.144G>C	NP_001372081.1:p.Glu48Asp
NM_001385153.1:c.144G>C	NP_001372082.1:p.Glu48Asp
NM_001385154.1:c.144G>C	NP_001372083.1:p.Glu48Asp
NM_001385155.1:c.144G>C	NP_001372084.1:p.Glu48Asp
NM_001385156.1:c.144G>C	NP_001372085.1:p.Glu48Asp
NM_001385158.1:c.-352G>C	NP_001372087.1:n.-352G>C
NR_169574.1:n.482G>C
NR_169575.1:n.472G>C
NR_169576.1:n.571G>C
NR_169577.1:n.472G>C
NR_169578.1:n.482G>C
NR_169579.1:n.581G>C
NR_169580.1:n.299G>C