Canonical Allele Identifier: CA289356801

Gene: ADAP2

Linked Data

• dbSNP Id: rs141372056
• gnomAD v2: 17-29283858-T-C
• gnomAD v3: 17-30956840-T-C
• gnomAD v4: 17-30956840-T-C
• MyVariant Identifiers: chr17:g.29283858T>C (hg19) ; chr17:g.30956840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956840T>C , CM000679.2:g.30956840T>C	GRCh38
NC_000017.10:g.29283858T>C , CM000679.1:g.29283858T>C	GRCh37
NC_000017.9:g.26307984T>C	NCBI36
NG_051975.1:g.40105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+371T>C MANE Select	ENSP00000329468.3:n.1111+371T>C
ENST00000330889.7:c.1111+371T>C	ENSP00000329468.3:n.1111+371T>C
ENST00000470962.1:n.531+371T>C
ENST00000580525.5:c.1129+371T>C	ENSP00000464121.1:n.1129+371T>C
ENST00000584828.5:c.402+449T>C
ENST00000585130.5:c.*710+371T>C	ENSP00000464120.1:n.*710+371T>C
NM_018404.2:c.1111+371T>C	NP_060874.1:n.1111+371T>C
XM_005258008.2:c.1129+371T>C	XP_005258065.1:n.1129+371T>C
XM_005258011.2:c.1066+371T>C	XP_005258068.1:n.1066+371T>C
XM_006721973.2:c.1051+449T>C	XP_006722036.1:n.1051+449T>C
XM_011524993.1:c.1126+371T>C	XP_011523295.1:n.1126+371T>C
XM_011524994.1:c.1108+371T>C	XP_011523296.1:n.1108+371T>C
NM_001346712.1:c.1129+371T>C	NP_001333641.1:n.1129+371T>C
NM_001346714.1:c.1108+371T>C	NP_001333643.1:n.1108+371T>C
NM_001346716.1:c.1033+449T>C	NP_001333645.1:n.1033+449T>C
NR_144488.1:n.1310+371T>C
XM_024450832.1:c.1126+371T>C	XP_024306600.1:n.1126+371T>C
XM_024450833.1:c.1066+371T>C	XP_024306601.1:n.1066+371T>C
XM_024450834.1:c.1051+449T>C	XP_024306602.1:n.1051+449T>C
XM_024450835.1:c.745+371T>C	XP_024306603.1:n.745+371T>C
NM_018404.3:c.1111+371T>C MANE Select	NP_060874.1:n.1111+371T>C
NM_001346712.2:c.1129+371T>C	NP_001333641.1:n.1129+371T>C
NM_001346714.2:c.1108+371T>C	NP_001333643.1:n.1108+371T>C
NM_001346716.2:c.1033+449T>C	NP_001333645.1:n.1033+449T>C
NR_144488.2:n.1101+371T>C