Canonical Allele Identifier: CA490206546

Gene: PATL2

Linked Data

• dbSNP Id: rs1480898631
• MyVariant Identifiers: chr15:g.45003396T>C (hg19) ; chr15:g.44711198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711198T>C , CM000677.2:g.44711198T>C	GRCh38
NC_000015.9:g.45003396T>C , CM000677.1:g.45003396T>C	GRCh37
NC_000015.8:g.42790688T>C	NCBI36
NG_012920.1:g.4712T>C
NG_012920.2:g.4722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-432A>G MANE Select	ENSP00000508024.1:n.-432A>G
ENST00000558573.1:n.119A>G
XM_011521338.1:c.-432A>G	XP_011519640.1:n.-432A>G
XM_011521339.1:c.-313A>G	XP_011519641.1:n.-313A>G
XM_011521340.1:c.-254A>G	XP_011519642.1:n.-254A>G
XM_011521343.1:c.-516A>G	XP_011519645.1:n.-516A>G
XM_011521345.1:c.-487A>G	XP_011519647.1:n.-487A>G
XM_011521338.3:c.-432A>G	XP_011519640.1:n.-432A>G
XM_011521339.3:c.-313A>G	XP_011519641.1:n.-313A>G
XM_011521340.3:c.-254A>G	XP_011519642.1:n.-254A>G
XM_011521343.3:c.-516A>G	XP_011519645.1:n.-516A>G
XM_011521345.3:c.-487A>G	XP_011519647.1:n.-487A>G
NM_001387260.1:c.-76+134A>G	NP_001374189.1:n.-76+134A>G
NM_001387261.1:c.-254A>G	NP_001374190.1:n.-254A>G
NM_001387262.1:c.-522A>G	NP_001374191.1:n.-522A>G
NM_001387263.1:c.-432A>G MANE Select	NP_001374192.1:n.-432A>G