Canonical Allele Identifier: CA100003598

Linked Data

dbSNP Id: rs1011274561
gnomAD v2: 4-79832838-G-T
gnomAD v3: 4-78911684-G-T
gnomAD v4: 4-78911684-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911684G>T , CM000666.2:g.78911684G>T GRCh38
NC_000004.11:g.79832838G>T , CM000666.1:g.79832838G>T GRCh37
NC_000004.10:g.80051862G>T NCBI36
NG_047162.1:g.140307G>T
NG_053104.1:g.32755C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3137G>T (BMP2K) MANE Select ENSP00000424668.2:p.Ser1046Ile
ENST00000335016.9:c.3137G>T (BMP2K) ENSP00000334836.5:p.Ser1046Ile
ENST00000342820.10:c.*782+3526C>A (PAQR3) ENSP00000344203.6:n.*782+3526C>A
ENST00000502613.1:c.2214G>T (BMP2K)
ENST00000511594.5:c.*505C>A (PAQR3) ENSP00000425080.1:n.*505C>A
ENST00000512760.5:c.*792+3526C>A (PAQR3) ENSP00000426875.1:n.*792+3526C>A
ENST00000628286.1:c.*2113G>T (BMP2K) ENSP00000487317.1:n.*2113G>T
NM_198892.1:c.3137G>T (BMP2K) NP_942595.1:p.Ser1046Ile
XM_005263117.1:c.3026G>T (BMP2K) XP_005263174.1:p.Ser1009Ile
XM_011532101.1:c.2897G>T (BMP2K) XP_011530403.1:p.Ser966Ile
XR_938694.1:n.1118-5523C>A (PAQR3)
XM_017008381.1:c.2897G>T (BMP2K) XP_016863870.1:p.Ser966Ile
XM_017008382.1:c.2249G>T (BMP2K) XP_016863871.1:p.Ser750Ile
XR_938694.3:n.1098-5523C>A (PAQR3)
NM_198892.2:c.3137G>T (BMP2K) MANE Select NP_942595.1:p.Ser1046Ile