Canonical Allele Identifier: CA490206470

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711173-C-G
• MyVariant Identifiers: chr15:g.45003371C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711173C>G , CM000677.2:g.44711173C>G	GRCh38
NC_000015.9:g.45003371C>G , CM000677.1:g.45003371C>G	GRCh37
NC_000015.8:g.42790663C>G	NCBI36
NG_012920.1:g.4687C>G
NG_012920.2:g.4697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-407G>C MANE Select	ENSP00000508024.1:n.-407G>C
ENST00000558573.1:n.144G>C
XM_011521338.1:c.-407G>C	XP_011519640.1:n.-407G>C
XM_011521339.1:c.-288G>C	XP_011519641.1:n.-288G>C
XM_011521340.1:c.-229G>C	XP_011519642.1:n.-229G>C
XM_011521343.1:c.-491G>C	XP_011519645.1:n.-491G>C
XM_011521345.1:c.-462G>C	XP_011519647.1:n.-462G>C
XM_011521338.3:c.-407G>C	XP_011519640.1:n.-407G>C
XM_011521339.3:c.-288G>C	XP_011519641.1:n.-288G>C
XM_011521340.3:c.-229G>C	XP_011519642.1:n.-229G>C
XM_011521343.3:c.-491G>C	XP_011519645.1:n.-491G>C
XM_011521345.3:c.-462G>C	XP_011519647.1:n.-462G>C
NM_001387260.1:c.-76+159G>C	NP_001374189.1:n.-76+159G>C
NM_001387261.1:c.-229G>C	NP_001374190.1:n.-229G>C
NM_001387262.1:c.-497G>C	NP_001374191.1:n.-497G>C
NM_001387263.1:c.-407G>C MANE Select	NP_001374192.1:n.-407G>C