Canonical Allele Identifier: CA375219532

Gene: HMCN2

Linked Data

• dbSNP Id: rs763915336
• gnomAD v2: 9-133308835-G-C
• gnomAD v3: 9-130433448-G-C
• gnomAD v4: 9-130433448-G-C
• MyVariant Identifiers: chr9:g.133308835G>C (hg19) ; chr9:g.130433448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433448G>C , CM000671.2:g.130433448G>C	GRCh38
NC_000009.11:g.133308835G>C , CM000671.1:g.133308835G>C	GRCh37
NC_000009.10:g.132298656G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14938G>C	ENSP00000485357.2:p.Asp4980His
ENST00000683500.2:c.14995G>C MANE Select	ENSP00000508292.2:p.Asp4999His
ENST00000623487.1:n.3341G>C
ENST00000624552.3:c.14935G>C	ENSP00000485357.1:p.Asp4979His
NM_001291815.1:c.14995G>C	NP_001278744.1:p.Asp4999His
XM_011518465.1:c.14872G>C	XP_011516767.1:p.Asp4958His
XM_011518466.1:c.14863G>C	XP_011516768.1:p.Asp4955His
XM_011518467.1:c.14818G>C	XP_011516769.1:p.Asp4940His
NM_001291815.2:c.14995G>C MANE Select	NP_001278744.1:p.Asp4999His
XM_011518465.2:c.14872G>C	XP_011516767.1:p.Asp4958His
XM_011518466.2:c.14863G>C	XP_011516768.1:p.Asp4955His
XM_011518467.2:c.14818G>C	XP_011516769.1:p.Asp4940His
XM_017014585.1:c.11776G>C	XP_016870074.1:p.Asp3926His
XM_017014586.1:c.7573G>C	XP_016870075.1:p.Asp2525His
XR_001746957.1:n.92+173C>G
XR_001746958.1:n.92+173C>G