Canonical Allele Identifier: CA339395668

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098395G>T , CM000663.2:g.36098395G>T	GRCh38
NC_000001.10:g.36563996G>T , CM000663.1:g.36563996G>T	GRCh37
NC_000001.9:g.36336583G>T	NCBI36
NG_016245.2:g.31690C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1286C>A MANE Select	NP_005193.1:p.Pro429Gln
ENST00000397799.2:c.1286C>A MANE Select	ENSP00000380901.1:p.Pro429Gln
NM_001294347.1:c.1091C>A	NP_001281276.1:p.Pro364Gln
NM_001294347.2:c.1091C>A	NP_001281276.1:p.Pro364Gln
NM_005202.3:c.1286C>A	NP_005193.1:p.Pro429Gln
ENST00000303143.9:c.1286C>A	ENSP00000305913.4:p.Pro429Gln
ENST00000397799.1:c.1286C>A	ENSP00000380901.1:p.Pro429Gln
ENST00000481785.1:c.1091C>A	ENSP00000436433.1:p.Pro364Gln
ENST00000615990.1:c.773-315C>A	ENSP00000484406.1:n.773-315C>A
XM_005270477.2:c.1517C>A	XP_005270534.1:p.Pro506Gln
XM_005270477.3:c.1517C>A	XP_005270534.1:p.Pro506Gln