Canonical Allele Identifier: CA375219473

Gene: HMCN2

Linked Data

• dbSNP Id: rs1734269679
• MyVariant Identifiers: chr9:g.133308821T>C (hg19) ; chr9:g.130433434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433434T>C , CM000671.2:g.130433434T>C	GRCh38
NC_000009.11:g.133308821T>C , CM000671.1:g.133308821T>C	GRCh37
NC_000009.10:g.132298642T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14924T>C	ENSP00000485357.2:p.Val4975Ala
ENST00000683500.2:c.14981T>C MANE Select	ENSP00000508292.2:p.Val4994Ala
ENST00000623487.1:n.3327T>C
ENST00000624552.3:c.14921T>C	ENSP00000485357.1:p.Val4974Ala
NM_001291815.1:c.14981T>C	NP_001278744.1:p.Val4994Ala
XM_011518465.1:c.14858T>C	XP_011516767.1:p.Val4953Ala
XM_011518466.1:c.14849T>C	XP_011516768.1:p.Val4950Ala
XM_011518467.1:c.14804T>C	XP_011516769.1:p.Val4935Ala
NM_001291815.2:c.14981T>C MANE Select	NP_001278744.1:p.Val4994Ala
XM_011518465.2:c.14858T>C	XP_011516767.1:p.Val4953Ala
XM_011518466.2:c.14849T>C	XP_011516768.1:p.Val4950Ala
XM_011518467.2:c.14804T>C	XP_011516769.1:p.Val4935Ala
XM_017014585.1:c.11762T>C	XP_016870074.1:p.Val3921Ala
XM_017014586.1:c.7559T>C	XP_016870075.1:p.Val2520Ala
XR_001746957.1:n.92+187A>G
XR_001746958.1:n.92+187A>G