Canonical Allele Identifier: CA375219272

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433385-G-C
• MyVariant Identifiers: chr9:g.133308772G>C (hg19) ; chr9:g.130433385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433385G>C , CM000671.2:g.130433385G>C	GRCh38
NC_000009.11:g.133308772G>C , CM000671.1:g.133308772G>C	GRCh37
NC_000009.10:g.132298593G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14875G>C	ENSP00000485357.2:p.Gly4959Arg
ENST00000683500.2:c.14932G>C MANE Select	ENSP00000508292.2:p.Gly4978Arg
ENST00000623487.1:n.3278G>C
ENST00000624552.3:c.14872G>C	ENSP00000485357.1:p.Gly4958Arg
NM_001291815.1:c.14932G>C	NP_001278744.1:p.Gly4978Arg
XM_011518465.1:c.14809G>C	XP_011516767.1:p.Gly4937Arg
XM_011518466.1:c.14800G>C	XP_011516768.1:p.Gly4934Arg
XM_011518467.1:c.14755G>C	XP_011516769.1:p.Gly4919Arg
NM_001291815.2:c.14932G>C MANE Select	NP_001278744.1:p.Gly4978Arg
XM_011518465.2:c.14809G>C	XP_011516767.1:p.Gly4937Arg
XM_011518466.2:c.14800G>C	XP_011516768.1:p.Gly4934Arg
XM_011518467.2:c.14755G>C	XP_011516769.1:p.Gly4919Arg
XM_017014585.1:c.11713G>C	XP_016870074.1:p.Gly3905Arg
XM_017014586.1:c.7510G>C	XP_016870075.1:p.Gly2504Arg
XR_001746957.1:n.92+236C>G
XR_001746958.1:n.92+236C>G