Canonical Allele Identifier: CA490206182

Gene: PATL2

Linked Data

• dbSNP Id: rs1225076008
• gnomAD v4: 15-44711093-G-A
• MyVariant Identifiers: chr15:g.45003291G>A (hg19) ; chr15:g.44711093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711093G>A , CM000677.2:g.44711093G>A	GRCh38
NC_000015.9:g.45003291G>A , CM000677.1:g.45003291G>A	GRCh37
NC_000015.8:g.42790583G>A	NCBI36
NG_012920.1:g.4607G>A
NG_012920.2:g.4617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-327C>T MANE Select	ENSP00000508024.1:n.-327C>T
ENST00000558573.1:n.224C>T
XM_011521338.1:c.-327C>T	XP_011519640.1:n.-327C>T
XM_011521339.1:c.-208C>T	XP_011519641.1:n.-208C>T
XM_011521340.1:c.-149C>T	XP_011519642.1:n.-149C>T
XM_011521343.1:c.-411C>T	XP_011519645.1:n.-411C>T
XM_011521345.1:c.-382C>T	XP_011519647.1:n.-382C>T
XM_011521338.3:c.-327C>T	XP_011519640.1:n.-327C>T
XM_011521339.3:c.-208C>T	XP_011519641.1:n.-208C>T
XM_011521340.3:c.-149C>T	XP_011519642.1:n.-149C>T
XM_011521343.3:c.-411C>T	XP_011519645.1:n.-411C>T
XM_011521345.3:c.-382C>T	XP_011519647.1:n.-382C>T
NM_001387260.1:c.-76+239C>T	NP_001374189.1:n.-76+239C>T
NM_001387261.1:c.-149C>T	NP_001374190.1:n.-149C>T
NM_001387262.1:c.-417C>T	NP_001374191.1:n.-417C>T
NM_001387263.1:c.-327C>T MANE Select	NP_001374192.1:n.-327C>T