Canonical Allele Identifier: CA375219646

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433481-G-C
• MyVariant Identifiers: chr9:g.133308868G>C (hg19) ; chr9:g.130433481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433481G>C , CM000671.2:g.130433481G>C	GRCh38
NC_000009.11:g.133308868G>C , CM000671.1:g.133308868G>C	GRCh37
NC_000009.10:g.132298689G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14971G>C	ENSP00000485357.2:p.Gly4991Arg
ENST00000683500.2:c.15028G>C MANE Select	ENSP00000508292.2:p.Gly5010Arg
ENST00000623487.1:n.3374G>C
ENST00000624552.3:c.14968G>C	ENSP00000485357.1:p.Gly4990Arg
NM_001291815.1:c.15028G>C	NP_001278744.1:p.Gly5010Arg
XM_011518465.1:c.14905G>C	XP_011516767.1:p.Gly4969Arg
XM_011518466.1:c.14896G>C	XP_011516768.1:p.Gly4966Arg
XM_011518467.1:c.14851G>C	XP_011516769.1:p.Gly4951Arg
NM_001291815.2:c.15028G>C MANE Select	NP_001278744.1:p.Gly5010Arg
XM_011518465.2:c.14905G>C	XP_011516767.1:p.Gly4969Arg
XM_011518466.2:c.14896G>C	XP_011516768.1:p.Gly4966Arg
XM_011518467.2:c.14851G>C	XP_011516769.1:p.Gly4951Arg
XM_017014585.1:c.11809G>C	XP_016870074.1:p.Gly3937Arg
XM_017014586.1:c.7606G>C	XP_016870075.1:p.Gly2536Arg
XR_001746957.1:n.92+140C>G
XR_001746958.1:n.92+140C>G