Canonical Allele Identifier: CA406041823

Gene: DMRTC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41850628G>T , CM000681.2:g.41850628G>T	GRCh38
NC_000019.9:g.42354696G>T , CM000681.1:g.42354696G>T	GRCh37
NC_000019.8:g.47046536G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001040283.3:c.919G>T MANE Select	NP_001035373.1:p.Ala307Ser
ENST00000269945.8:c.919G>T MANE Select	ENSP00000269945.2:p.Ala307Ser
NM_001040283.2:c.919G>T	NP_001035373.1:p.Ala307Ser
ENST00000269945.7:c.919G>T	ENSP00000269945.2:p.Ala307Ser
ENST00000596827.5:c.1072G>T	ENSP00000469525.1:p.Ala358Ser
ENST00000599022.1:n.385G>T
ENST00000601660.5:c.*437G>T	ENSP00000472159.1:n.*437G>T
XM_005259146.3:c.928G>T	XP_005259203.1:p.Ala310Ser
XM_005259148.3:c.919G>T	XP_005259205.1:p.Ala307Ser
XM_011527212.1:c.919G>T	XP_011525514.1:p.Ala307Ser
XM_011527213.1:c.919G>T	XP_011525515.1:p.Ala307Ser
XM_011527214.1:c.550G>T	XP_011525516.1:p.Ala184Ser
XM_011527215.1:c.550G>T	XP_011525517.1:p.Ala184Ser
XM_017027123.1:c.1087G>T	XP_016882612.1:p.Ala363Ser
XM_017027124.2:c.1081G>T	XP_016882613.1:p.Ala361Ser
XM_017027125.1:c.1072G>T	XP_016882614.1:p.Ala358Ser
XM_017027126.2:c.1072G>T	XP_016882615.1:p.Ala358Ser
XM_017027127.2:c.1072G>T	XP_016882616.1:p.Ala358Ser
XM_017027128.1:c.1072G>T	XP_016882617.1:p.Ala358Ser
XM_017027129.1:c.934G>T	XP_016882618.1:p.Ala312Ser