Canonical Allele Identifier: CA375219639

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308865G>C (hg19) ; chr9:g.130433478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433478G>C , CM000671.2:g.130433478G>C	GRCh38
NC_000009.11:g.133308865G>C , CM000671.1:g.133308865G>C	GRCh37
NC_000009.10:g.132298686G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14968G>C	ENSP00000485357.2:p.Val4990Leu
ENST00000683500.2:c.15025G>C MANE Select	ENSP00000508292.2:p.Val5009Leu
ENST00000623487.1:n.3371G>C
ENST00000624552.3:c.14965G>C	ENSP00000485357.1:p.Val4989Leu
NM_001291815.1:c.15025G>C	NP_001278744.1:p.Val5009Leu
XM_011518465.1:c.14902G>C	XP_011516767.1:p.Val4968Leu
XM_011518466.1:c.14893G>C	XP_011516768.1:p.Val4965Leu
XM_011518467.1:c.14848G>C	XP_011516769.1:p.Val4950Leu
NM_001291815.2:c.15025G>C MANE Select	NP_001278744.1:p.Val5009Leu
XM_011518465.2:c.14902G>C	XP_011516767.1:p.Val4968Leu
XM_011518466.2:c.14893G>C	XP_011516768.1:p.Val4965Leu
XM_011518467.2:c.14848G>C	XP_011516769.1:p.Val4950Leu
XM_017014585.1:c.11806G>C	XP_016870074.1:p.Val3936Leu
XM_017014586.1:c.7603G>C	XP_016870075.1:p.Val2535Leu
XR_001746957.1:n.92+143C>G
XR_001746958.1:n.92+143C>G