Canonical Allele Identifier: CA375219498

Gene: HMCN2

Linked Data

• dbSNP Id: rs1271398438
• gnomAD v2: 9-133308827-C-T
• gnomAD v4: 9-130433440-C-T
• MyVariant Identifiers: chr9:g.133308827C>T (hg19) ; chr9:g.130433440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433440C>T , CM000671.2:g.130433440C>T	GRCh38
NC_000009.11:g.133308827C>T , CM000671.1:g.133308827C>T	GRCh37
NC_000009.10:g.132298648C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14930C>T	ENSP00000485357.2:p.Ala4977Val
ENST00000683500.2:c.14987C>T MANE Select	ENSP00000508292.2:p.Ala4996Val
ENST00000623487.1:n.3333C>T
ENST00000624552.3:c.14927C>T	ENSP00000485357.1:p.Ala4976Val
NM_001291815.1:c.14987C>T	NP_001278744.1:p.Ala4996Val
XM_011518465.1:c.14864C>T	XP_011516767.1:p.Ala4955Val
XM_011518466.1:c.14855C>T	XP_011516768.1:p.Ala4952Val
XM_011518467.1:c.14810C>T	XP_011516769.1:p.Ala4937Val
NM_001291815.2:c.14987C>T MANE Select	NP_001278744.1:p.Ala4996Val
XM_011518465.2:c.14864C>T	XP_011516767.1:p.Ala4955Val
XM_011518466.2:c.14855C>T	XP_011516768.1:p.Ala4952Val
XM_011518467.2:c.14810C>T	XP_011516769.1:p.Ala4937Val
XM_017014585.1:c.11768C>T	XP_016870074.1:p.Ala3923Val
XM_017014586.1:c.7565C>T	XP_016870075.1:p.Ala2522Val
XR_001746957.1:n.92+181G>A
XR_001746958.1:n.92+181G>A