Canonical Allele Identifier: CA490206649

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711233-T-C
• MyVariant Identifiers: chr15:g.45003431T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711233T>C , CM000677.2:g.44711233T>C	GRCh38
NC_000015.9:g.45003431T>C , CM000677.1:g.45003431T>C	GRCh37
NC_000015.8:g.42790723T>C	NCBI36
NG_012920.1:g.4747T>C
NG_012920.2:g.4757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-467A>G MANE Select	ENSP00000508024.1:n.-467A>G
ENST00000558573.1:n.84A>G
XM_011521338.1:c.-467A>G	XP_011519640.1:n.-467A>G
XM_011521339.1:c.-348A>G	XP_011519641.1:n.-348A>G
XM_011521340.1:c.-289A>G	XP_011519642.1:n.-289A>G
XM_011521343.1:c.-551A>G	XP_011519645.1:n.-551A>G
XM_011521345.1:c.-522A>G	XP_011519647.1:n.-522A>G
XM_011521338.3:c.-467A>G	XP_011519640.1:n.-467A>G
XM_011521339.3:c.-348A>G	XP_011519641.1:n.-348A>G
XM_011521340.3:c.-289A>G	XP_011519642.1:n.-289A>G
XM_011521343.3:c.-551A>G	XP_011519645.1:n.-551A>G
XM_011521345.3:c.-522A>G	XP_011519647.1:n.-522A>G
NM_001387260.1:c.-76+99A>G	NP_001374189.1:n.-76+99A>G
NM_001387261.1:c.-289A>G	NP_001374190.1:n.-289A>G
NM_001387262.1:c.-557A>G	NP_001374191.1:n.-557A>G
NM_001387263.1:c.-467A>G MANE Select	NP_001374192.1:n.-467A>G