Canonical Allele Identifier: CA375219401

Gene: HMCN2

Linked Data

• dbSNP Id: rs1280613671
• gnomAD v3: 9-130433416-T-C
• gnomAD v4: 9-130433416-T-C
• MyVariant Identifiers: chr9:g.133308803T>C (hg19) ; chr9:g.130433416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433416T>C , CM000671.2:g.130433416T>C	GRCh38
NC_000009.11:g.133308803T>C , CM000671.1:g.133308803T>C	GRCh37
NC_000009.10:g.132298624T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14906T>C	ENSP00000485357.2:p.Leu4969Pro
ENST00000683500.2:c.14963T>C MANE Select	ENSP00000508292.2:p.Leu4988Pro
ENST00000623487.1:n.3309T>C
ENST00000624552.3:c.14903T>C	ENSP00000485357.1:p.Leu4968Pro
NM_001291815.1:c.14963T>C	NP_001278744.1:p.Leu4988Pro
XM_011518465.1:c.14840T>C	XP_011516767.1:p.Leu4947Pro
XM_011518466.1:c.14831T>C	XP_011516768.1:p.Leu4944Pro
XM_011518467.1:c.14786T>C	XP_011516769.1:p.Leu4929Pro
NM_001291815.2:c.14963T>C MANE Select	NP_001278744.1:p.Leu4988Pro
XM_011518465.2:c.14840T>C	XP_011516767.1:p.Leu4947Pro
XM_011518466.2:c.14831T>C	XP_011516768.1:p.Leu4944Pro
XM_011518467.2:c.14786T>C	XP_011516769.1:p.Leu4929Pro
XM_017014585.1:c.11744T>C	XP_016870074.1:p.Leu3915Pro
XM_017014586.1:c.7541T>C	XP_016870075.1:p.Leu2514Pro
XR_001746957.1:n.92+205A>G
XR_001746958.1:n.92+205A>G