Canonical Allele Identifier: CA375219641

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308866T>A (hg19) ; chr9:g.130433479T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433479T>A , CM000671.2:g.130433479T>A	GRCh38
NC_000009.11:g.133308866T>A , CM000671.1:g.133308866T>A	GRCh37
NC_000009.10:g.132298687T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14969T>A	ENSP00000485357.2:p.Val4990Asp
ENST00000683500.2:c.15026T>A MANE Select	ENSP00000508292.2:p.Val5009Asp
ENST00000623487.1:n.3372T>A
ENST00000624552.3:c.14966T>A	ENSP00000485357.1:p.Val4989Asp
NM_001291815.1:c.15026T>A	NP_001278744.1:p.Val5009Asp
XM_011518465.1:c.14903T>A	XP_011516767.1:p.Val4968Asp
XM_011518466.1:c.14894T>A	XP_011516768.1:p.Val4965Asp
XM_011518467.1:c.14849T>A	XP_011516769.1:p.Val4950Asp
NM_001291815.2:c.15026T>A MANE Select	NP_001278744.1:p.Val5009Asp
XM_011518465.2:c.14903T>A	XP_011516767.1:p.Val4968Asp
XM_011518466.2:c.14894T>A	XP_011516768.1:p.Val4965Asp
XM_011518467.2:c.14849T>A	XP_011516769.1:p.Val4950Asp
XM_017014585.1:c.11807T>A	XP_016870074.1:p.Val3936Asp
XM_017014586.1:c.7604T>A	XP_016870075.1:p.Val2535Asp
XR_001746957.1:n.92+142A>T
XR_001746958.1:n.92+142A>T