Canonical Allele Identifier: CA467387200

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433387-C-A
• MyVariant Identifiers: chr9:g.133308774C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433387C>A , CM000671.2:g.130433387C>A	GRCh38
NC_000009.11:g.133308774C>A , CM000671.1:g.133308774C>A	GRCh37
NC_000009.10:g.132298595C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14877C>A	ENSP00000485357.2:p.Gly4959=
ENST00000683500.2:c.14934C>A MANE Select	ENSP00000508292.2:p.Gly4978=
ENST00000623487.1:n.3280C>A
ENST00000624552.3:c.14874C>A	ENSP00000485357.1:p.Gly4958=
NM_001291815.1:c.14934C>A	NP_001278744.1:p.Gly4978=
XM_011518465.1:c.14811C>A	XP_011516767.1:p.Gly4937=
XM_011518466.1:c.14802C>A	XP_011516768.1:p.Gly4934=
XM_011518467.1:c.14757C>A	XP_011516769.1:p.Gly4919=
NM_001291815.2:c.14934C>A MANE Select	NP_001278744.1:p.Gly4978=
XM_011518465.2:c.14811C>A	XP_011516767.1:p.Gly4937=
XM_011518466.2:c.14802C>A	XP_011516768.1:p.Gly4934=
XM_011518467.2:c.14757C>A	XP_011516769.1:p.Gly4919=
XM_017014585.1:c.11715C>A	XP_016870074.1:p.Gly3905=
XM_017014586.1:c.7512C>A	XP_016870075.1:p.Gly2504=
XR_001746957.1:n.92+234G>T
XR_001746958.1:n.92+234G>T