Canonical Allele Identifier: CA765210

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36100221G>A , CM000663.2:g.36100221G>A	GRCh38
NC_000001.10:g.36565822G>A , CM000663.1:g.36565822G>A	GRCh37
NC_000001.9:g.36338409G>A	NCBI36
NG_016245.2:g.29864C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.22C>T MANE Select	NP_005193.1:p.Leu8=
ENST00000397799.2:c.22C>T MANE Select	ENSP00000380901.1:p.Leu8=
NM_001294347.1:c.-29C>T	NP_001281276.1:n.-29C>T
NM_001294347.2:c.-29C>T	NP_001281276.1:n.-29C>T
NM_005202.3:c.22C>T	NP_005193.1:p.Leu8=
ENST00000303143.9:c.22C>T	ENSP00000305913.4:p.Leu8=
ENST00000397799.1:c.22C>T	ENSP00000380901.1:p.Leu8=
ENST00000481785.1:c.-29C>T	ENSP00000436433.1:n.-29C>T
ENST00000615990.1:c.22C>T	ENSP00000484406.1:p.Leu8=
XM_005270477.2:c.253C>T	XP_005270534.1:p.Leu85=
XM_005270477.3:c.253C>T	XP_005270534.1:p.Leu85=