Canonical Allele Identifier: CA375219210

Gene: HMCN2

Linked Data

• dbSNP Id: rs1331063907
• gnomAD v2: 9-133308755-C-T
• gnomAD v3: 9-130433368-C-T
• gnomAD v4: 9-130433368-C-T
• MyVariant Identifiers: chr9:g.133308755C>T (hg19) ; chr9:g.130433368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433368C>T , CM000671.2:g.130433368C>T	GRCh38
NC_000009.11:g.133308755C>T , CM000671.1:g.133308755C>T	GRCh37
NC_000009.10:g.132298576C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14858C>T	ENSP00000485357.2:p.Ser4953Leu
ENST00000683500.2:c.14915C>T MANE Select	ENSP00000508292.2:p.Ser4972Leu
ENST00000623487.1:n.3261C>T
ENST00000624552.3:c.14855C>T	ENSP00000485357.1:p.Ser4952Leu
NM_001291815.1:c.14915C>T	NP_001278744.1:p.Ser4972Leu
XM_011518465.1:c.14792C>T	XP_011516767.1:p.Ser4931Leu
XM_011518466.1:c.14783C>T	XP_011516768.1:p.Ser4928Leu
XM_011518467.1:c.14738C>T	XP_011516769.1:p.Ser4913Leu
NM_001291815.2:c.14915C>T MANE Select	NP_001278744.1:p.Ser4972Leu
XM_011518465.2:c.14792C>T	XP_011516767.1:p.Ser4931Leu
XM_011518466.2:c.14783C>T	XP_011516768.1:p.Ser4928Leu
XM_011518467.2:c.14738C>T	XP_011516769.1:p.Ser4913Leu
XM_017014585.1:c.11696C>T	XP_016870074.1:p.Ser3899Leu
XM_017014586.1:c.7493C>T	XP_016870075.1:p.Ser2498Leu
XR_001746957.1:n.92+253G>A
XR_001746958.1:n.92+253G>A