Canonical Allele Identifier: CA270113971

Gene: PATL2

Linked Data

• dbSNP Id: rs11854648
• gnomAD v4: 15-44711256-G-T
• MyVariant Identifiers: chr15:g.45003454G>T (hg19) ; chr15:g.44711256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711256G>T , CM000677.2:g.44711256G>T	GRCh38
NC_000015.9:g.45003454G>T , CM000677.1:g.45003454G>T	GRCh37
NC_000015.8:g.42790746G>T	NCBI36
NG_012920.1:g.4770G>T
NG_012920.2:g.4780G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-490C>A MANE Select	ENSP00000508024.1:n.-490C>A
ENST00000558573.1:n.61C>A
XM_011521338.1:c.-490C>A	XP_011519640.1:n.-490C>A
XM_011521339.1:c.-371C>A	XP_011519641.1:n.-371C>A
XM_011521340.1:c.-312C>A	XP_011519642.1:n.-312C>A
XM_011521343.1:c.-574C>A	XP_011519645.1:n.-574C>A
XM_011521345.1:c.-545C>A	XP_011519647.1:n.-545C>A
XM_011521338.3:c.-490C>A	XP_011519640.1:n.-490C>A
XM_011521339.3:c.-371C>A	XP_011519641.1:n.-371C>A
XM_011521340.3:c.-312C>A	XP_011519642.1:n.-312C>A
XM_011521343.3:c.-574C>A	XP_011519645.1:n.-574C>A
XM_011521345.3:c.-545C>A	XP_011519647.1:n.-545C>A
NM_001387260.1:c.-76+76C>A	NP_001374189.1:n.-76+76C>A
NM_001387261.1:c.-312C>A	NP_001374190.1:n.-312C>A
NM_001387262.1:c.-580C>A	NP_001374191.1:n.-580C>A
NM_001387263.1:c.-490C>A MANE Select	NP_001374192.1:n.-490C>A