Canonical Allele Identifier: CA765150

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36100016G>A , CM000663.2:g.36100016G>A	GRCh38
NC_000001.10:g.36565617G>A , CM000663.1:g.36565617G>A	GRCh37
NC_000001.9:g.36338204G>A	NCBI36
NG_016245.2:g.30069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.193+34C>T MANE Select	ENSP00000380901.1:n.193+34C>T
ENST00000303143.9:c.193+34C>T	ENSP00000305913.4:n.193+34C>T
ENST00000397799.1:c.193+34C>T	ENSP00000380901.1:n.193+34C>T
ENST00000481785.1:c.-3+179C>T	ENSP00000436433.1:n.-3+179C>T
ENST00000615990.1:c.193+34C>T	ENSP00000484406.1:n.193+34C>T
NM_001294347.1:c.-3+179C>T	NP_001281276.1:n.-3+179C>T
NM_005202.3:c.193+34C>T	NP_005193.1:n.193+34C>T
XM_005270477.2:c.424+34C>T	XP_005270534.1:n.424+34C>T
XM_005270477.3:c.424+34C>T	XP_005270534.1:n.424+34C>T
NM_005202.4:c.193+34C>T MANE Select	NP_005193.1:n.193+34C>T
NM_001294347.2:c.-3+179C>T	NP_001281276.1:n.-3+179C>T