Canonical Allele Identifier: CA490206729

Gene: PATL2

Linked Data

• dbSNP Id: rs1281174442
• MyVariant Identifiers: chr15:g.45003458G>A (hg19) ; chr15:g.44711260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711260G>A , CM000677.2:g.44711260G>A	GRCh38
NC_000015.9:g.45003458G>A , CM000677.1:g.45003458G>A	GRCh37
NC_000015.8:g.42790750G>A	NCBI36
NG_012920.1:g.4774G>A
NG_012920.2:g.4784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-494C>T MANE Select	ENSP00000508024.1:n.-494C>T
ENST00000558573.1:n.57C>T
XM_011521338.1:c.-494C>T	XP_011519640.1:n.-494C>T
XM_011521339.1:c.-375C>T	XP_011519641.1:n.-375C>T
XM_011521340.1:c.-316C>T	XP_011519642.1:n.-316C>T
XM_011521343.1:c.-578C>T	XP_011519645.1:n.-578C>T
XM_011521345.1:c.-549C>T	XP_011519647.1:n.-549C>T
XM_011521338.3:c.-494C>T	XP_011519640.1:n.-494C>T
XM_011521339.3:c.-375C>T	XP_011519641.1:n.-375C>T
XM_011521340.3:c.-316C>T	XP_011519642.1:n.-316C>T
XM_011521343.3:c.-578C>T	XP_011519645.1:n.-578C>T
XM_011521345.3:c.-549C>T	XP_011519647.1:n.-549C>T
NM_001387260.1:c.-76+72C>T	NP_001374189.1:n.-76+72C>T
NM_001387261.1:c.-316C>T	NP_001374190.1:n.-316C>T
NM_001387262.1:c.-584C>T	NP_001374191.1:n.-584C>T
NM_001387263.1:c.-494C>T MANE Select	NP_001374192.1:n.-494C>T