Canonical Allele Identifier: CA375219351

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844884505
• gnomAD v4: 9-130433404-A-C
• MyVariant Identifiers: chr9:g.133308791A>C (hg19) ; chr9:g.130433404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433404A>C , CM000671.2:g.130433404A>C	GRCh38
NC_000009.11:g.133308791A>C , CM000671.1:g.133308791A>C	GRCh37
NC_000009.10:g.132298612A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14894A>C	ENSP00000485357.2:p.Gln4965Pro
ENST00000683500.2:c.14951A>C MANE Select	ENSP00000508292.2:p.Gln4984Pro
ENST00000623487.1:n.3297A>C
ENST00000624552.3:c.14891A>C	ENSP00000485357.1:p.Gln4964Pro
NM_001291815.1:c.14951A>C	NP_001278744.1:p.Gln4984Pro
XM_011518465.1:c.14828A>C	XP_011516767.1:p.Gln4943Pro
XM_011518466.1:c.14819A>C	XP_011516768.1:p.Gln4940Pro
XM_011518467.1:c.14774A>C	XP_011516769.1:p.Gln4925Pro
NM_001291815.2:c.14951A>C MANE Select	NP_001278744.1:p.Gln4984Pro
XM_011518465.2:c.14828A>C	XP_011516767.1:p.Gln4943Pro
XM_011518466.2:c.14819A>C	XP_011516768.1:p.Gln4940Pro
XM_011518467.2:c.14774A>C	XP_011516769.1:p.Gln4925Pro
XM_017014585.1:c.11732A>C	XP_016870074.1:p.Gln3911Pro
XM_017014586.1:c.7529A>C	XP_016870075.1:p.Gln2510Pro
XR_001746957.1:n.92+217T>G
XR_001746958.1:n.92+217T>G